Mutations in different components of FGF signaling in LADD syndrome

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26 February 2006

journal article
research article
Published by Springer Nature in Nature Genetics

Vol. 38 (4) , 414-417
https://doi.org/10.1038/ng1757

Abstract

Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling.

Keywords

This publication has 14 references indexed in Scilit:

Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
Cytokine & Growth Factor Reviews, 2005
FGFR2b signaling regulates ex vivo submandibular gland epithelial cell proliferation and branching morphogenesis
Development, 2005
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands
Nature Genetics, 2005
Conditional knockdown of Fgfr2 in mice using Cre-LoxP induced RNA interference
Nucleic Acids Research, 2005
Novel roles ofFgfr2in AER differentiation and positioning of the dorsoventral limb interface
Development, 2003
Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome
American Journal of Human Genetics, 2000
Exclusive paternal origin of new mutations in Apert syndrome
Nature Genetics, 1996
Lacrimo‐Auriculo‐Dento‐Digital syndrome: Evidence for lower limb involvement and severe congenital renal anomalies
American Journal of Medical Genetics, 1992
The lacrimo-auriculo-dento-digital syndrome
The Journal of Pediatrics, 1973
Mesoectodermal Dysplasia: A new combination of anomalies
American Journal of Ophthalmology, 1967